Results 121 to 130 of about 23,446 (182)

Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II. [PDF]

Eur J Case Rep Intern Med
Truong TH, Kim NT, Do DL, Vu MP, Nguyen MT, Le HA, Le TT.   +6 more
europepmc   +1 more source

A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy. [PDF]

Intern Med
Toba N, Sonoda T, Ishigaki S, Oda M, Nakamura Y, Kudo H, Nakajima S, Takikawa K, Ouchi H, Kato K, Kikuchi T, Nakaya I.   +11 more
europepmc   +1 more source

Biocomputational frameworks for exploring ornithine transcarbamylase mutations in OTC deficiency psychosis. [PDF]

Ann Med Surg (Lond)
Shahab SH, Habib F.
europepmc   +1 more source

Extracellular Vesicles Delivered a Functional ARG1 Enzyme and Restored Its Activity in a Mouse Model of ARG1-D Resulting in Improved Lifespan. [PDF]

Int J Mol Sci
Hsieh LE, Cacciottolo M, LeClaire MJ, Morrison W, Murphy B, Lau C, Elliott K, Marban L, Sun M.   +8 more
europepmc   +1 more source

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]

BMC Med Genomics
Hajati R, Hashemian F, Salehpour S, Sayad A.   +3 more
europepmc   +1 more source

Pediatric liver transplantation for inherited metabolic disease-Current challenges. [PDF]

Saudi J Gastroenterol
Vara R, Hadzic N.
europepmc   +1 more source

Distinct metabolomic and proteomic signatures in Parkinson's disease patients with REM sleep behavior disorder. [PDF]

Signal Transduct Target Ther
Shao Y, Wang J, Liu Y, Ni Y, Liu Z, Li Y, Jia Q, Li Q, Wang X, Li T, Liu M, Zhang S, Guo Y, Guo X, Wang D, Liu Y, Liu C, Cai H, Ning Y, Zhang J, Xu G, Le W.   +21 more
europepmc   +1 more source

Perioperative management of pediatric patients with inborn errors of metabolism during liver transplantation. [PDF]

World J Transplant
Paulin S, Rajakumar A, Menon J, Shanmugam N, Rela M.   +4 more
europepmc   +1 more source